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American Journal of Medical Genetics. Part A|August 5, 2015
New insights into central nervous system involvement in FOP: Case report and review of the literatureMarta Bertamino, Mariasavina Severino, Maria Cristina Schiaffino, et al.Journal of Medical Genetics|August 28, 2016
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressivaMariasavina Severino, Marta Bertamino, Domenico Tortora, et al.American Journal of Respiratory Cell and Molecular Biology|August 30, 2008
Epithelial sodium channel inhibition in primary human bronchial epithelia by transfected siRNAEmanuela Caci, Raffaella Melani, Nicoletta Pedemonte, et al.The Journal of Biological Chemistry|October 13, 2009
Regulation of TMEM16A chloride channel properties by alternative splicingLoretta Ferrera, Antonella Caputo, Ifeoma Ubby, et al.American Journal of Medical Genetics. Part A|February 5, 2003
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variabilityMonica Marini, Roberto Cusano, Pierangela De Biasio, et al.Human Mutation|September 8, 2005
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 geneRenata Bocciardi, Roberto Giorda, Valeria Marigo, et al.The Journal of Physiology|June 26, 2015
Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoformsPaolo Scudieri, Emanuela Caci, Arianna Venturini, et al.Neurobiology of Disease|October 4, 2011
In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteinsEleonora Di Zanni, Tiziana Bachetti, Sara Parodi, et al.Cancer Genetics and Cytogenetics|May 28, 2008
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemiaGabriella Cirmena, Stefania Aliano, Giuseppina Fugazza, et al.Human Genetics|September 7, 2002
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)Giorgio Gimelli, Sabrina Giglio, Orsetta Zuffardi, et al.Pageof 14